EGFR 20外显子插入突变非小细胞肺癌的诊疗现状及进展  

Diagnosis and treatment status and progress of EGFR exon 20 insertion mutation non-small cell lung cancer

作　　者：盛舒 卯云烨 翟今朝 卢迪 葛祥伟 贾杨洋 秦博宇 吕东来 汪进良[1,3] SHENG Shu;MAO Yunye;ZHAI Jinzhao;LU Di;GE Xiangwei;JIA Yangyang;QIN Boyu;LYU Donglai;WANG Jinliang(Graduate School,General Hospital of PLA/Chinese PLA Medical School,Beijing 100853,China;Department of Oncology,the 901th Hospital of the Chinese People's Liberation Army Joint Security Force,Anhui Hefei 230031,China;Department of Oncology,the Fifth Medical Center,General Hospital of PLA,Beijing 100071,China)

机构地区：[1]解放军总医院研究生院/解放军医学院,北京100853 [2]中国人民解放军联勤保障部队第九〇一医院肿瘤科,安徽合肥230031 [3]解放军总医院第五医学中心肿瘤医学部肿瘤内科,北京100071

出　　处：《现代肿瘤医学》2024年第17期3392-3397,共6页Journal of Modern Oncology

摘　　要：表皮生长因子受体(epidermal growth factor receptor,EGFR)基因突变是非小细胞肺癌(non-small cell lung cancer,NSCLC)中最常见的突变类型,该类突变可因变异位点的不同而产生结构和功能的异质性。其中,EGFR 20外显子插入突变(exon 20 insertion,ex20ins)发生率约占所有EGFR突变NSCLC患者中的4%~12%,是仅次于EGFR 19外显子缺失突变及EGFR 21外显子L858R突变的类型。EGFR ex20ins突变由于插入位点的不同,也存在异质性,对现有针对EGFR的靶向药物敏感度不同,且大多数并不敏感,因此其治疗仍以化疗为主。随着对此类突变的深入研究,多种药物已进入临床阶段。该文对EGFR ex20ins突变的结构和功能、治疗进展等方面进行综述,以期为临床治疗提供新的思路。Epidermal growth factor receptor(EGFR) gene mutations are highly prevalent in non-small cell lung cancer(NSCLC) and exhibit significant structural and functional diversity due to variations in mutation sites.Presently,there is a range of targeted drugs available for treating EGFR mutations.Of these mutations,EGFR exon 20 insertion mutations(ex20ins) constitute approximately 4%~12% and rank third in frequency after EGFR exon 19 deletion mutations and EGFR exon 21 L858R mutations.The heterogeneity of EGFR ex20ins mutations is evident as they occur at different insertion sites,resulting in varying sensitivities to existing targeted drugs for EGFR.Unfortunately,most of those patients with EGFR ex20ins mutations exhibit limited response to these targeted drugs,and as a result,chemotherapy remains the primary treatment option.Nonetheless,intensive research efforts have led to the development of various drugs that are currently undergoing clinical trials specifically targeting this mutation.This article aims to provide a comprehensive review of the structure and function of EGFR ex20ins mutations,and treatment progress,with the objective of offering novel perspectives for clinical management.

关 键 词：非小细胞肺癌 EGFR 20外显子插入突变 靶向治疗治疗进展 

分 类 号：R734.2[医药卫生—肿瘤]